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.V2229I

c.6685G>A

Surrounding Variants

2 papers

NM_000051.4

p.V2229F

c.6685G>T

1 paper

NM_000051.4

p.V2229D

c.6686T>A

1 paper

NM_000051.4

p.V2229A

c.6686T>C

4 papers

NM_000051.4

p.T2228I

c.6683C>T

1 paper

NM_000051.4

p.L2231insFs

c.6691_6692ins5

1 paper

NM_000051.4

p.I2230F

c.6688A>T

1 paper

NM_000051.4

p.I2230T

c.6689T>C

9 papers

NM_000051.4

p.R2227H

c.6680G>A

1 paper

NM_000051.4

p.T2228delFs

c.6683_6684delCA

1 paper

NM_000051.4

p.R2227S

c.6679C>A

1 paper

NM_000051.4

p.R2227G

c.6679C>G

71 papers

NM_000051.4

p.R2227C

c.6679C>T