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

2 papers

NM_000051.4

p.P1378L

c.4133C>T

Surrounding Variants

2 papers

NM_000051.4

p.N1377_P1378ins2

c.4131_4132ins6

1 paper

NM_000051.4

p.N1377_P1378insA

c.4129_4133ins3

2 papers

NM_000051.4

p.N1377D

c.4129A>G

1 paper

NM_000051.4

p.H1380fs

c.4138_4139fs

1 paper

NM_000051.4

p.H1380D

c.4138C>G

65 papers

NM_000051.4

p.H1380Y

c.4138C>T

16 papers

NM_000051.4

p.F1381insFs

c.4143dupT

1 paper

NM_000051.4

p.H1380P

c.4139A>C

1 paper

NM_000051.4

p.H1380R

c.4139A>G

5 papers

NM_000051.4

p.P1376R

c.4127C>G

1 paper

NM_000051.4

p.P1376A

c.4126C>G

1 paper

NM_000051.4

p.P1376S

c.4126C>T