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

38 papers

NM_000051.4

p.L263delFs

c.788delT

Surrounding Variants

4 papers

NM_000051.4

p.L263fs

c.787_788fs

4 papers

NM_000051.4

p.L263F

c.787C>T

1 paper

NM_000051.4

p.L263ins1

c.788_789insTCT

1 paper

NM_000051.4

p.L263delFs

c.787delC

1 paper

NM_000051.4

p.L263P

c.788T>C

4 papers

NM_000051.4

p.L262*

c.785T>A

4 papers

NM_000051.4

p.L262S

c.785T>C

3 papers

NM_000051.4

p.L262W

c.785T>G

2 papers

NM_000051.4

p.Y264_I265delFs

c.791_794del4

1 paper

NM_000051.4

p.Y264N

c.790T>A

1 paper

NM_000051.4

p.Y264H

c.790T>C

6 papers

NM_000051.4

p.Y264fs

c.790_791fs