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.Y2755H

c.8263T>C

Surrounding Variants

4 papers

NM_000051.4

p.Y2755insFs

c.8264dupA

4 papers

NM_000051.4

p.Y2755fs

c.8263_8264fs

7 papers

NM_000051.4

p.Y2755fs

c.8263_8264fs

33 papers

NM_000051.4

p.Y2755_K2756delFs

c.8264_8268del5

5 papers

NM_000051.4

p.Y2755S

c.8264A>C

2 papers

NM_000051.4

p.Y2755C

c.8264A>G

3 papers

NM_000051.4

p.T2754I

c.8261C>T

1 paper

NM_000051.4

p.T2754_Y2755del1

c.8262_8264delTTA

6 papers

NM_000051.4

p.Y2755*

c.8265T>A

1 paper

NM_000051.4

p.Y2755Y

c.8265T>C

6 papers

NM_000051.4

p.Y2755*

c.8265T>G

1 paper

NM_000051.4

p.K2756fs

c.8266_8267fs