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

2 papers

NM_000051.4

p.F3049delFs

c.9146delT

Surrounding Variants

5 papers

NM_000051.4

p.L3048V

c.9142C>G

2 papers

NM_000051.4

p.L3048F

c.9142C>T

1 paper

NM_000051.4

p.F3049delFs

c.9145_9146delTT

1 paper

NM_000051.4

p.L3048R

c.9143T>G

8 papers

NM_000051.4

p.R3047Q

c.9140G>A

1 paper

NM_000051.4

p.F3049_W3052del4

c.9145_9155del12

116 papers

NM_000051.4

p.R3047*

c.9139C>T

1 paper

NM_000051.4

p.F3049L

c.9145T>C

1 paper

NM_000051.4

p.F3049V

c.9145T>G

2 papers

NM_000051.4

p.F3049fs

c.9145_9146fs

2 papers

NM_000051.4

p.F3049fs

c.9145_9146fs

1 paper

NM_000051.4

p.S3046R

c.9138C>A