Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-60T>A

Surrounding Variants

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-57C>T

6 papers

NM_000051.4

p.K792_K793Splc

c.2377-56A>G

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-67C>T

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-68A>C

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-50A>C

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-48T>C

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-74G>C

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-78G>C

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-80A>G

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-38T>G

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-85C>T

1 paper

NM_000051.4

p.K792_K793Splc

c.2377-86C>A