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.L391L

c.1173A>G

Surrounding Variants

1 paper

NM_000051.4

p.L391insFs

c.1171_1172insG

1 paper

NM_000051.4

p.L391_I396del0

c.1172_1186del15

2 papers

NM_000051.4

p.G392D

c.1175G>A

2 papers

NM_000051.4

p.G392V

c.1175G>T

11 papers

NM_000051.4

p.G392G

c.1176C>G

2 papers

NM_000051.4

p.E390A

c.1169A>C

4 papers

NM_000051.4

p.E390G

c.1169A>G

1 paper

NM_000051.4

p.W393_E394insFs

c.1179_1180dupGG

1 paper

NM_000051.4

p.W393fs

c.1177_1178fs

1 paper

NM_000051.4

p.W393_E394insC

c.1177_1181ins3

5 papers

NM_000051.4

p.W393_E394delFs

c.1179_1180delGG

10 papers

NM_000051.4

p.W393*

c.1178G>A