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.G330R

c.988G>A

Surrounding Variants

1 paper

NM_000051.4

p.G330R

c.988G>C

1 paper

NM_000051.4

p.G330fs

c.988_989fs

1 paper

NM_000051.4

p.G330*

c.988G>T

1 paper

NM_000051.4

p.G330_K331del1

c.989_991delGAA

1 paper

NM_000051.4

p.G330E

c.989G>A

3 papers

NM_000051.4

p.K331delFs

c.992delA

3 papers

NM_000051.4

p.R329K

c.986G>A

3 papers

NM_000051.4

p.R329T

c.986G>C

1 paper

NM_000051.4

p.R329I

c.986G>T

1 paper

NM_000051.4

p.R329fs

c.985_986fs

1 paper

NM_000051.4

p.K331fs

c.991_992fs

2 papers

NM_000051.4

p.K331_Y332insTA

c.991_995ins6