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.S381G

c.1141A>G

Surrounding Variants

1 paper

NM_000051.4

p.S381insFs

c.1142dupG

5 papers

NM_000051.4

p.S381fs

c.1141_1142fs

3 papers

NM_000051.4

p.S381insFs

c.1141_1142ins4

1 paper

NM_000051.4

p.S381C

c.1141A>T

1 paper

NM_000051.4

p.S381delFs

c.1142delG

3 papers

NM_000051.4

p.S381fs

c.1141_1142fs

1 paper

NM_000051.4

p.S381I

c.1142G>T

1 paper

NM_000051.4

p.Y380insFs

c.1139_1140ins4

1 paper

NM_000051.4

p.S381_V382insFs

c.1143_1144ins4

1 paper

NM_000051.4

p.V382_P383delFs

c.1144_1147del4

1 paper

NM_000051.4

p.V382I

c.1144G>A

1 paper

NM_000051.4

p.V382F

c.1144G>T