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.E2621K

c.7861G>A

Surrounding Variants

1 paper

NM_000051.4

p.A2622T

c.7864G>A

1 paper

NM_000051.4

p.V2620L

c.7858G>C

1 paper

NM_000051.4

p.A2622fs

c.7864_7865fs

5 papers

NM_000051.4

p.A2622G

c.7865C>G

18 papers

NM_000051.4

p.A2622V

c.7865C>T

1 paper

NM_000051.4

p.S2619fs

c.7855_7856fs

1 paper

NM_000051.4

p.S2619G

c.7855A>G

2 papers

NM_000051.4

p.L2623I

c.7867C>A

3 papers

NM_000051.4

p.L2623F

c.7867C>T

1 paper

NM_000051.4

p.R2618K

c.7853G>A

1 paper

NM_000051.4

p.S2619delFs

c.7855delA

1 paper

NM_000051.4

p.L2623L

c.7869T>C