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.K24_K25Splc

c.73-7T>A

Surrounding Variants

2 papers

NM_000051.4

p.K24_K25Splc

c.73-3C>G

1 paper

NM_000051.4

p.K24_K25Splc

c.73-3C>T

1 paper

NM_000051.4

p.K25_E26delFs

c.73_76del4

1 paper

NM_000051.4

p.K25_V27delFs

c.73_79del7

1 paper

NM_000051.4

p.E26_K29del4

c.76_86del12

2 papers

NM_000051.4

p.K24_K25Splc

c.73-2A>G

1 paper

NM_000051.4

p.K24_K25Splc

c.73-1G>T

1 paper

NM_000051.4

p.K24_K25Splc

c.73-14C>G

1 paper

NM_000051.4

p.K25R

c.74A>G

1 paper

NM_000051.4

p.E26insFs

c.76dupG

3 papers

NM_000051.4

p.E26K

c.76G>A

5 papers

NM_000051.4

p.E26Q

c.76G>C