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.R1095Splc

c.3284+21G>C

Surrounding Variants

1 paper

NM_000051.4

p.R1095Splc

c.3284+22A>C

1 paper

NM_000051.4

p.R1095Splc

c.3284+16T>G

1 paper

NM_000051.4

p.R1095Splc

c.3284+10C>G

1 paper

NM_000051.4

p.R1095Splc

c.3284+36C>T

1 paper

NM_000051.4

p.R1095Splc

c.3284+37T>A

1 paper

NM_000051.4

p.R1095Splc

c.3284+4A>G

1 paper

NM_000051.4

p.R1095Splc

c.3284+3A>G

1 paper

NM_000051.4

p.R1095Splc

c.3284+39C>G

1 paper

NM_000051.4

p.R1095Splc

c.3284+2T>C

6 papers

NM_000051.4

p.R1095Splc

c.3284+1G>A

1 paper

NM_000051.4

p.R1095Splc

c.3284+1G>T

13 papers

NM_000051.4

p.R1095K

c.3284G>A