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.K41I

c.122A>T

Surrounding Variants

1 paper

NM_000051.4

p.K41_H42insFs

c.123_124ins4

1 paper

NM_000051.4

p.K41Q

c.121A>C

3 papers

NM_000051.4

p.K41E

c.121A>G

2 papers

NM_000051.4

p.H42delFs

c.124delC

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

1 paper

NM_000051.4

p.I40I

c.120T>A

1 paper

NM_000051.4

p.K41insFs

c.121_122ins4

1 paper

NM_000051.4

p.H42insFs

c.125_126insT

38 papers

NM_000051.4

p.H42R

c.125A>G