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.D1803V

c.5408A>T

Surrounding Variants

2 papers

NM_000051.4

p.D1803D

c.5409C>T

1 paper

NM_000051.4

p.I1804delFs

c.5410_5411delAT

1 paper

NM_000051.4

p.I1804_W1805del2

c.5410_5414del6

1 paper

NM_000051.4

p.D1803Y

c.5407G>T

1 paper

NM_000051.4

p.D1803_I1804delFs

c.5409_5410delCA

1 paper

NM_000051.4

p.I1804fs

c.5410_5411fs

4 papers

NM_000051.4

p.I1804F

c.5410A>T

2 papers

NM_000051.4

p.I1804delFs

c.5411delT

1 paper

NM_000051.4

p.H1802Q

c.5406T>A

1 paper

NM_000051.4

p.H1802Q

c.5406T>G

1 paper

NM_000051.4

p.H1802_D1803insFs

c.5406_5407insA

3 papers

NM_000051.4

p.H1802R

c.5405A>G