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.F627fs

c.1879_1880fs

Surrounding Variants

15 papers

NM_000051.4

p.F627C

c.1880T>G

1 paper

NM_000051.4

p.F627L

c.1881C>G

1 paper

NM_000051.4

p.F626S

c.1877T>C

2 papers

NM_000051.4

p.Q628fs

c.1882_1883fs

10 papers

NM_000051.4

p.Q628*

c.1882C>T

3 papers

NM_000051.4

p.Q628fs

c.1882_1883fs

1 paper

NM_000051.4

p.F626L

c.1876T>C

1 paper

NM_000051.4

p.Q628R

c.1883A>G

1 paper

NM_000051.4

p.F626_E632insFs

c.1876_1895dup20

3 papers

NM_000051.4

p.F627insFs

c.1880dupT

1 paper

NM_000051.4

p.N625T

c.1874A>C

1 paper

NM_000051.4

p.Q628H

c.1884A>C