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

5 papers

NM_000051.4

p.C1423R

c.4267T>C

Surrounding Variants

1 paper

NM_000051.4

p.C1423S

c.4267T>A

1 paper

NM_000051.4

p.C1423S

c.4268G>C

1 paper

NM_000051.4

p.C1423F

c.4268G>T

3 papers

NM_000051.4

p.I1422T

c.4265T>C

3 papers

NM_000051.4

p.I1422L

c.4264A>C

3 papers

NM_000051.4

p.I1422V

c.4264A>G

3 papers

NM_000051.4

p.I1422L

c.4264A>T

1 paper

NM_000051.4

p.I1422fs

c.4264_4265fs

1 paper

NM_000051.4

p.E1424_Q1425insAG

c.4270_4274ins6

1 paper

NM_000051.4

p.E1424*

c.4270G>T

2 papers

NM_000051.4

p.E1424G

c.4271A>G

1 paper

NM_000051.4

p.E1424E

c.4272G>A