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.H42L

c.125A>T

Surrounding Variants

1 paper

NM_000051.4

p.H42insFs

c.125_126insT

38 papers

NM_000051.4

p.H42R

c.125A>G

2 papers

NM_000051.4

p.H42N

c.124C>A

1 paper

NM_000051.4

p.H42fs

c.124_125fs

1 paper

NM_000051.4

p.H42D

c.124C>G

7 papers

NM_000051.4

p.H42Y

c.124C>T

2 papers

NM_000051.4

p.H42Q

c.126T>A

1 paper

NM_000051.4

p.H42Q

c.126T>G

1 paper

NM_000051.4

p.K41_H42insFs

c.123_124ins4

2 papers

NM_000051.4

p.H42delFs

c.124delC

4 papers

NM_000051.4

p.L43I

c.127C>A

4 papers

NM_000051.4

p.L43V

c.127C>G