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

5 papers

NM_000051.4

p.G2772E

c.8315G>A

Surrounding Variants

3 papers

NM_000051.4

p.G2772A

c.8315G>C

11 papers

NM_000051.4

p.G2772R

c.8314G>A

11 papers

NM_000051.4

p.G2772R

c.8314G>C

1 paper

NM_000051.4

p.G2772*

c.8314G>T

3 papers

NM_000051.4

p.T2773_P2775insFs

c.8319_8323dup5

2 papers

NM_000051.4

p.T2773A

c.8317A>G

3 papers

NM_000051.4

p.T2773N

c.8318C>A

1 paper

NM_000051.4

p.T2771K

c.8312C>A

1 paper

NM_000051.4

p.T2771R

c.8312C>G

4 papers

NM_000051.4

p.T2773I

c.8318C>T

3 papers

NM_000051.4

p.T2771I

c.8312C>T

1 paper

NM_000051.4

p.T2771S

c.8311A>T