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.V2284delFs

c.6850delG

Surrounding Variants

12 papers

NM_000051.4

p.V2284_S2285del2

c.6850_6854del6

3 papers

NM_000051.4

p.S2283*

c.6848C>A

3 papers

NM_000051.4

p.S2283*

c.6848C>G

5 papers

NM_000051.4

p.S2283L

c.6848C>T

1 paper

NM_000051.4

p.V2284F

c.6850G>T

1 paper

NM_000051.4

p.V2284fs

c.6850_6851fs

1 paper

NM_000051.4

p.S2283P

c.6847T>C

1 paper

NM_000051.4

p.S2285_C2286del2

c.6853_6857del6

2 papers

NM_000051.4

p.N2282S

c.6845A>G

1 paper

NM_000051.4

p.N2282D

c.6844A>G

1 paper

NM_000051.4

p.Y2281*

c.6843C>A

2 papers

NM_000051.4

p.Y2281*

c.6843C>G